ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1809G>A (p.Trp603Ter)

gnomAD frequency: 0.00001  dbSNP: rs796051960
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185901 SCV000238854 pathogenic not provided 2014-05-06 criteria provided, single submitter clinical testing p.Trp603Stop (TGG>TGA): c.1809 G>A in exon 13 of the ETFDH gene (NM_004453.2) The W603X nonsense mutation in the ETFDH gene has been reported previously in association with glutaric aciduria type II. This mutation is predicted to cause loss of normal protein function through protein truncation. The variant is found in MITONUC-MITOP panel(s).
Baylor Genetics RCV003474942 SCV004194802 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2023-08-30 criteria provided, single submitter clinical testing

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